伴有肌张力障碍表现的Costello综合征一例
National Medical Journal of China(2020)
Abstract
10月龄男婴,因生长发育迟缓伴肌张力障碍收入院,伴有特殊面容。经过二代测序及家系一代验证,在HRAS基因发现一个已知杂合突变c.34G>T(p.G12C),确诊为Costello综合征(CS),未在父母外周血中检测到该突变。
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